Illlustration by Vasava
Douglass Turnbull spends much of his time seeing patients who have untreatable, often fatal, diseases. But the neurologist has rarely felt more helpless than when he met Sharon Bernardi and her young son Edward.
Bernardi had lost three children within hours of birth, owing to a mysterious build-up of acid in their blood. So it was a huge relief when Edward seemed to develop normally. He did all his milestones: he sat up, he crawled and started to walk at 14 months, Bernardi recalls. But when he was about two years old, he began to fall over after taking a few steps; he eventually started having seizures. In 1994, when Edward was four, he was diagnosed with Leigh's disease, a condition that affects the central nervous system. Doctors told Sharon that her son would be lucky to reach his fifth birthday.
Turnbull, who works at Newcastle University, UK, remembers despairing that whatever we do, we're never going to be able to help families like that. His frustration sparked a quest to develop assisted-reproduction techniques to prevent disorders such as Leigh's disease, which are caused when children inherit devastating mutations in their mitochondria, the cell's energy-making structures.
The procedures sometimes called three-person in vitro fertilization (IVF) involve transferring nuclear genetic material from the egg of a woman with mutant mitochondria into another woman's healthy egg. Turnbull and others have tested the techniques in mice, monkeys and human egg cells in culture; now, they say, it is time to try them in people. The UK Parliament is set to vote on the issue later this year; if legislation passes, the country would be the first to allow this kind of genetic modification of unborn children.
Ewen Callaway talks to researchers and a patient about the techniques that replace faulty DNA in egg cells
You may need a more recent browser or to install the latest version of the Adobe Flash Plugin.
But some scientists have raised concerns over the safety of the procedures, and an increasingly vocal coalition of activists, ethicists and politicians argues that a 'yes' vote will lead down a slippery slope to designer babies. US regulators and scientists are closely watching the debate as they consider allowing similar procedures. I admire what they've done in Britain, says Dieter Egli, a stem-cell scientist at the New York Stem Cell Foundation, a non-profit research institute. I think they are far ahead in discussion of this, compared to the US.
The mitochondrion, according to one popular theory, was once a free-living bacterium that became trapped in a host cell, where it boosted the cell's capacity to generate the energy-carrying molecule ATP. As a result, each mitochondrion has its own genome but it no longer has all the genes it needs to function independently (the human mitochondrial genome, for example, has a paltry 37 genes).
Unlike the genome in the cell nucleus, which includes chromosomes from both parents, all of a person's mitochondria derive from the thousands contained in the mother's egg. For reasons still being studied, the mitochondrial genome is much less stable than the nuclear genome, accruing random DNA mutations about 1,000 times faster. As many as 1 in 5,000 children are born with diseases caused by these mutations, which affect power-hungry cells such as those in the brain and muscles. The severity of the conditions depends on the proportion of diseased mitochondria a mother passes on to her children.
Here is the original post:
Reproductive medicine: The power of three
- IOM not webcast today. Why Not? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- National Academies skeptical at Best. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Some Confusion Exists [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Why DTC Genomics IS Medicine. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- First Mari, Now Linda. Who's next? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Is it true? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Re-Reviewing the National Academies [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- The problem with nonclinicians....... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Crazy Night of Emails to Government [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Adrienne Carlson's Personalized Medicine. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Tell Me, How do you feel now? Sherpa's RX [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- This Just In. 23andMe to go to GPs. I love my readers!! [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Sorry so long away [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- 2D6 Rears its ugly head..... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Ok, Fine, Back to Plavix [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Kaiser a protoype for Collins' Aim [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- A few months late to the party.... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Stated Another Way....... [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Excuse Me? Harvard and Navigenics? WTF? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Follow up to Yesterday's WTF? Harvard, Navi? and Pfizer??? [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Did you get your kit? Thanks Dr. Rob from MedCo [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Gluco...Wha? Parkinson's Disease and Glucocerebrosidase mutations. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Away and now back, What did I miss???? 23andme layoffs? Selling Genomes for cheap up next! [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Change IS Needed. I agree with William, sometimes. [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Good Enough Science? Apparently so at 23andme [Last Updated On: November 8th, 2009] [Originally Added On: November 8th, 2009]
- Long QT Syndrome, location matters [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Congratulations Generation Health. Nice pick up! [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- An argument 23andSerge can't win...23andme but not medicine [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Stop. Breathe. Repeat. An analysis of the direction of DTC Genomics Field. [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Hey DTC genomics, Stay Private, Stay Alive, Go Public and Die [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- You can't have it both way. Either scared your genome is sold off or not. [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- 15 Days Away Gives Time for Perspective. [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- What about the SACGHS registry? Another missed opportunity? [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- AJHG is in and my Favorite Muin is in it! But He Is NOT the Father! [Last Updated On: December 13th, 2009] [Originally Added On: December 13th, 2009]
- Navigenics for 23andMe prices? [Last Updated On: December 18th, 2009] [Originally Added On: December 18th, 2009]
- Lp(a) Maybe there's something there that wasn't there before? [Last Updated On: December 24th, 2009] [Originally Added On: December 24th, 2009]
- Another Year, Another Bankruptcy [Last Updated On: December 31st, 2009] [Originally Added On: December 31st, 2009]
- 5 Technologies going bye bye in this decade? [Last Updated On: January 6th, 2010] [Originally Added On: January 6th, 2010]
- Hackers, HITECH and HIPAA in DTC Genomics, Oh My! [Last Updated On: January 7th, 2010] [Originally Added On: January 7th, 2010]
- Personal Genomics Flop.....big Belly Flop! [Last Updated On: January 8th, 2010] [Originally Added On: January 8th, 2010]
- Gotta Love It. Even the daycare....... [Last Updated On: January 11th, 2010] [Originally Added On: January 11th, 2010]
- Congratulations Navigenics. You ARE a clinical lab! Uh-Oh... [Last Updated On: January 12th, 2010] [Originally Added On: January 12th, 2010]
- CETP, Jewish Centenarians and Alzheimers [Last Updated On: January 14th, 2010] [Originally Added On: January 14th, 2010]
- Enter the "Not" DTC Genomics Rep [Last Updated On: January 17th, 2010] [Originally Added On: January 17th, 2010]
- Why Dr. Vanier's Navigenics appointment is good for PM [Last Updated On: January 22nd, 2010] [Originally Added On: January 22nd, 2010]
- Holy Crap! MedCo Follows in CVS footsteps [Last Updated On: February 3rd, 2010] [Originally Added On: February 3rd, 2010]
- FDA, Warfarin, still not as sexy to me. [Last Updated On: February 5th, 2010] [Originally Added On: February 5th, 2010]
- Hype, Hype, Hype from a single study. [Last Updated On: February 11th, 2010] [Originally Added On: February 11th, 2010]
- I love my readers, even Renata M! [Last Updated On: February 17th, 2010] [Originally Added On: February 17th, 2010]
- How can insurers use DTC genomics to profile? [Last Updated On: February 17th, 2010] [Originally Added On: February 17th, 2010]
- 9p21.....ahem. Paynter et.al. Smackdown. Again. [Last Updated On: February 18th, 2010] [Originally Added On: February 18th, 2010]
- Hey! It's Pete Hulick! Are you Going to GET? [Last Updated On: February 19th, 2010] [Originally Added On: February 19th, 2010]
- I was wrong......AHEM [Last Updated On: February 28th, 2010] [Originally Added On: February 28th, 2010]
- G2C2, finally a tool for genomic education! [Last Updated On: March 2nd, 2010] [Originally Added On: March 2nd, 2010]
- Just 4 million? What 23andMe is worth. [Last Updated On: March 5th, 2010] [Originally Added On: March 5th, 2010]
- What a difference a year makes [Last Updated On: March 9th, 2010] [Originally Added On: March 9th, 2010]
- ........DTC Genomic Medicine? [Last Updated On: March 12th, 2010] [Originally Added On: March 12th, 2010]
- The FDA, 2c19 and the ACC [Last Updated On: March 13th, 2010] [Originally Added On: March 13th, 2010]
- The problem with Comparative Whole Genomics...... [Last Updated On: March 13th, 2010] [Originally Added On: March 13th, 2010]
- BRCA testing by 23andME is the same as Myriad Genetics. [Last Updated On: March 15th, 2010] [Originally Added On: March 15th, 2010]
- The Argument Against DTC Genomics Marketing and such [Last Updated On: March 16th, 2010] [Originally Added On: March 16th, 2010]
- A moment of Clarity. Some DTCG is not bad. [Last Updated On: March 18th, 2010] [Originally Added On: March 18th, 2010]
- SNPs for breast cancer risk? It Depends. [Last Updated On: March 18th, 2010] [Originally Added On: March 18th, 2010]
- How can MDVIP use Navigenics Test for Medicine? [Last Updated On: March 18th, 2010] [Originally Added On: March 18th, 2010]
- Why did P&G invest in Navigenics? [Last Updated On: March 23rd, 2010] [Originally Added On: March 23rd, 2010]
- PGx in DTCG? Doesn't stand up to Useful testing. [Last Updated On: March 25th, 2010] [Originally Added On: March 25th, 2010]
- End of Gene Patents? [Last Updated On: March 29th, 2010] [Originally Added On: March 29th, 2010]
- Sherpa Accepting Chief Medical Officership [Last Updated On: April 3rd, 2010] [Originally Added On: April 3rd, 2010]
- The Rumors of My Death........ [Last Updated On: April 20th, 2010] [Originally Added On: April 20th, 2010]
- Happy DNA Day! [Last Updated On: April 25th, 2010] [Originally Added On: April 25th, 2010]
- 99 USD, DNA day and patient letters [Last Updated On: April 25th, 2010] [Originally Added On: April 25th, 2010]
- 2C19, Navigenics and Clinical Reality. [Last Updated On: May 1st, 2010] [Originally Added On: May 1st, 2010]
- Coriell Personalized Medicine Collaborative rising [Last Updated On: May 7th, 2010] [Originally Added On: May 7th, 2010]
- Personal Genomes in Clinical Care. Quake paper is a waste! [Last Updated On: May 11th, 2010] [Originally Added On: May 11th, 2010]
- Personal Genomes in Clinical Care. Quake paper Falls Short! [Last Updated On: May 13th, 2010] [Originally Added On: May 13th, 2010]
- Last post edited by Drew [Last Updated On: May 13th, 2010] [Originally Added On: May 13th, 2010]
- GateKeeper? FCUK U! [Last Updated On: May 13th, 2010] [Originally Added On: May 13th, 2010]
- GateKeeper? F! U! [Last Updated On: May 15th, 2010] [Originally Added On: May 15th, 2010]
- Potential of genomic medicine, LOST [Last Updated On: May 19th, 2010] [Originally Added On: May 19th, 2010]
- How Bad Can a House Investigation be for DTC Genomics? [Last Updated On: May 20th, 2010] [Originally Added On: May 20th, 2010]